DNAH11 encodes a heavy dynein chain of the outer dynein arm. Mutations within the gene do not lead to any noticeable abnormality by transmission electron microscopy of cross sections nor has it been possible to show irregularities by immunofluorescence microscopy. The cilia show a stiff, hyperkinetic beat pattern with reduced amplitude.
Mutations (compound heterozygous) r.7812_7914del (p.Trp2604*) and c. 13333_34insACCA (p. Ile4445Asnfs*3): video 1.
Mutations (compound heterozygous) r.7812_7914del (p.Trp2604*) and c. 13333_34insACCA (p. Ile4445Asnfs*3): video 2.
Mutations (compound heterozygous) r.7812_7914del (p.Trp2604*) and c. 13333_34insACCA (p. Ile4445Asnfs*3): video 3.
Mutations (compound heterozygous) r.7812_7914del (p.Trp2604*) and c. 13333_34insACCA (p. Ile4445Asnfs*3): video 4.
Mutations (compound heterozygous) r.7812_7914del (p.Trp2604*) and c. 13333_34insACCA (p. Ile4445Asnfs*3): video 5.
Mutations (compound heterozygous) c.12384C>G; p.Tyr4128* + c.13552_13608del; p.A4518_A4523delinsQ: video 1.
Mutations (compound heterozygous) c.12384C>G; p.Tyr4128* + c.13552_13608del; p.A4518_A4523delinsQ: video 2.
Mutations (compound heterozygous) c.12384C>G; p.Tyr4128* + c.13552_13608del; p.A4518_A4523delinsQ: video 3.
Mutations (compound heterozygous) c.12384C>G; p.Tyr4128* + c.13552_13608del; p.A4518_A4523delinsQ: video 4.
Mutations (compound heterozygous) c.12384C>G; p.Tyr4128* + c.13552_13608del; p.A4518_A4523delinsQ: video 5.
